Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-158593828-G-C c.*215C>G splice_region ACVR1 1 67550 1.48038E-5 33775 0 NA
2-158594060-A-G p.Leu505Leu synonymous ACVR1 737 83054 0.00887374 41527 15 0.0181563
2-158594064-G-A p.Asp503Asp synonymous ACVR1 7 83090 8.4246E-5 41545 0 9.55353E-5
2-158594066-C-T p.Asp503Asn missense ACVR1 1 83076 1.20372E-5 41538 0 5.03525E-4
2-158594067-G-A p.Leu502Leu synonymous ACVR1 33 83082 3.97198E-4 41541 0 0.00350341
2-158594094-C-CTTTT p.Thr494fs frameshift ACVR1 2 83072 2.40755E-5 41536 1 NA
2-158594105-G-A p.Arg490Cys missense ACVR1 1 83040 1.20424E-5 41520 0 NA
2-158594121-T-C p.Ala484Ala synonymous ACVR1 1 83036 1.2043E-5 41518 0 NA
2-158594124-G-A p.Ser483Ser synonymous ACVR1 1 83018 1.20456E-5 41509 0 5.76787E-5
2-158594154-T-A p.Leu473Leu synonymous ACVR1 1 82932 1.20581E-5 41466 0 8.23805E-6
2-158594167-G-C p.Ser469Cys missense ACVR1 2 82826 2.4147E-5 41413 0 6.36821E-5
2-158594167-G-A p.Ser469Phe missense ACVR1 1 82826 1.20735E-5 41413 0 NA
2-158594169-G-A p.Thr468Thr synonymous ACVR1 3 82812 3.62266E-5 41406 0 NA
2-158594170-G-A p.Thr468Ile missense ACVR1 1 82812 1.20755E-5 41406 0 3.98168E-6
2-158594175-T-C p.Thr466Thr splice_region+synonymous ACVR1 2 82784 2.41593E-5 41392 0 3.98165E-6
2-158594178-C-CT c.1396-2_1396-1insA splice_acceptor ACVR1 1 82744 1.20855E-5 41372 0 1.59279E-5
2-158594185-G-A c.1396-8C>T splice_region ACVR1 1 82704 1.20913E-5 41352 0 1.15484E-4
2-158594947-C-T c.1395+5G>A splice_region ACVR1 11 83218 1.32183E-4 41609 0 7.41302E-5
2-158594952-C-T p.Pro465Pro splice_region+synonymous ACVR1 1 83252 1.20117E-5 41626 0 3.18593E-5
2-158594953-G-A p.Pro465Leu missense+splice_region ACVR1 6 83252 7.20703E-5 41626 0 7.16013E-5
2-158594953-G-T p.Pro465Gln missense+splice_region ACVR1 1 83252 1.20117E-5 41626 0 NA
2-158594987-T-G p.Arg454Arg synonymous ACVR1 6 83310 7.20202E-5 41655 0 9.55779E-5
2-158594992-T-A p.Gln452Leu missense ACVR1 1 83314 1.20028E-5 41657 0 5.03525E-4
2-158594997-C-T p.Val450Val synonymous ACVR1 3 83324 3.6004E-5 41662 0 4.9421E-5
2-158595013-C-CTATT p.Arg445fs frameshift ACVR1 1 83328 1.20008E-5 41664 0 3.97738E-6
2-158595015-C-T p.Met444Ile missense ACVR1 1 83316 1.20025E-5 41658 0 NA
2-158595017-T-C p.Met444Val missense ACVR1 1 83324 1.20013E-5 41662 0 NA
2-158595027-A-G p.Ser440Ser synonymous ACVR1 1 83306 1.20039E-5 41653 0 NA
2-158595029-T-C p.Ser440Gly missense ACVR1 3 83314 3.60084E-5 41657 0 3.29473E-5
2-158595037-T-C p.Asn437Ser missense ACVR1 3 83304 3.60127E-5 41652 0 3.18431E-5
2-158595049-T-C p.Asp433Gly missense ACVR1 1 83276 1.20083E-5 41638 0 3.97845E-6
2-158595050-C-T p.Asp433Asn missense ACVR1 2 83274 2.40171E-5 41637 0 1.64739E-5
2-158595051-G-A p.Tyr432Tyr synonymous ACVR1 2 83276 2.40165E-5 41638 0 4.94218E-5
2-158595057-C-T p.Pro430Pro synonymous ACVR1 3 83274 3.60256E-5 41637 0 9.55292E-5
2-158595058-G-A p.Pro430Leu missense ACVR1 2 83274 2.40171E-5 41637 0 NA
2-158595074-C-T p.Glu425Lys missense ACVR1 1 83238 1.20137E-5 41619 0 3.97842E-6
2-158595079-A-G p.Ile423Thr missense ACVR1 1 83212 1.20175E-5 41606 0 3.97855E-6
2-158617406-C-T p.Arg417Gln missense ACVR1 2 83252 2.40234E-5 41626 0 6.36983E-5
2-158617408-C-T p.Arg416Arg synonymous ACVR1 1 83244 1.20129E-5 41622 0 NA
2-158617429-A-G p.Leu409Leu synonymous ACVR1 1 83278 1.2008E-5 41639 0 3.97886E-6
2-158617439-G-T p.Ala406Asp missense ACVR1 1 83268 1.20094E-5 41634 0 NA
2-158617452-C-T p.Val402Ile missense ACVR1 3 83294 3.6017E-5 41647 0 3.97867E-6
2-158617452-C-A p.Val402Phe missense ACVR1 3 83294 3.6017E-5 41647 0 0.00100705
2-158617459-A-G p.Tyr399Tyr synonymous ACVR1 2 83278 2.40159E-5 41639 0 NA
2-158617477-C-A p.Val393Val synonymous ACVR1 1 83236 1.2014E-5 41618 0 NA
2-158617487-G-A p.Thr390Ile missense ACVR1 1 83176 1.20227E-5 41588 0 NA
2-158617504-G-A p.Pro384Pro synonymous ACVR1 1 83092 1.20349E-5 41546 0 3.18431E-5
2-158617506-G-A p.Pro384Ser missense ACVR1 1 83080 1.20366E-5 41540 0 8.25191E-6
2-158617508-G-A p.Ala383Val missense ACVR1 1 83070 1.2038E-5 41535 0 8.253E-6
2-158617525-G-A p.Gly377Gly synonymous ACVR1 842 82976 0.0101475 41488 15 0.0171041
2-158617535-G-A p.Pro374Leu missense ACVR1 1 82974 1.2052E-5 41487 0 NA
2-158617559-T-C p.Asn366Ser missense ACVR1 1 82860 1.20685E-5 41430 0 NA
2-158617570-G-T p.Ser362Ser synonymous ACVR1 109 82730 0.00131754 41365 0 0.0011039
2-158617587-G-A p.Leu357Leu splice_region+synonymous ACVR1 5 82438 6.06516E-5 41219 0 NA
2-158617589-C-CCCAAAT c.1067-1_1067insATTTGG splice_acceptor ACVR1 2 82346 2.42878E-5 41173 1 NA
2-158617590-C-CCAAATCTGCTATGCAACACTGTCCATTCTTCTTAACCAGAATATTTT c.1067-2_1067-1insAAAATATTCTGGTTAAGAAGAATGGACAGTGTTGCATAGCAGATTTG splice_acceptor ACVR1 4 82344 4.85767E-5 41172 2 NA
2-158617590-C-CCAAA c.1067-2_1067-1insTTTG splice_acceptor ACVR1 2 82344 2.42884E-5 41172 1 NA
2-158617596-GGAA-G c.1067-10_1067-8delTTC splice_region ACVR1 2 82102 2.43599E-5 41051 0 NA
2-158617597-G-A c.1067-8C>T splice_region ACVR1 1 82042 1.21889E-5 41021 0 3.18451E-5
2-158622445-T-G p.Ile352Leu missense ACVR1 2 83088 2.40709E-5 41544 0 NA
2-158622495-C-T p.Arg335Gln missense ACVR1 1 83186 1.20213E-5 41593 0 7.95976E-6
2-158622511-G-C p.Pro330Ala missense ACVR1 1 83174 1.2023E-5 41587 0 3.18532E-5
2-158622521-G-A p.Thr326Thr synonymous ACVR1 1 83150 1.20265E-5 41575 0 2.47178E-5
2-158622569-C-T p.Leu310Leu synonymous ACVR1 1 83132 1.20291E-5 41566 0 NA
2-158622579-C-A p.Arg307Leu missense ACVR1 2 83116 2.40628E-5 41558 0 3.97905E-6
2-158622579-C-T p.Arg307Gln missense ACVR1 4 83116 4.81255E-5 41558 0 2.47162E-5
2-158622588-C-T p.Ser304Asn missense ACVR1 1 83084 1.2036E-5 41542 0 8.23968E-6
2-158622603-G-C p.Thr299Ser missense ACVR1 2 83062 2.40784E-5 41531 0 1.59194E-5
2-158622611-C-T p.Gln296Gln synonymous ACVR1 2 83038 2.40854E-5 41519 0 NA
2-158622620-G-A p.Asp293Asp synonymous ACVR1 2 83034 2.40865E-5 41517 0 1.91107E-4
2-158622622-C-T p.Asp293Asn missense ACVR1 1 83024 1.20447E-5 41512 0 NA
2-158622623-G-A p.Tyr292Tyr synonymous ACVR1 2 83024 2.40894E-5 41512 0 6.37064E-5
2-158622629-C-T p.Ser290Ser synonymous ACVR1 3 83024 3.61341E-5 41512 0 9.07172E-5
2-158622643-G-T p.His286Asn missense ACVR1 1 82962 1.20537E-5 41481 0 1.65038E-5
2-158622662-C-T p.Leu279Leu synonymous ACVR1 1 82856 1.20691E-5 41428 0 NA
2-158622710-T-TAAGATATTTTCATGCCTCAGCATCACAGTGTTGTACAATTCC c.791-3_791-2insGGAATTGTACAACACTGTGATGCTGAGGCATGAAAATATCTT splice_region ACVR1 2 82416 2.42671E-5 41208 1 NA
2-158626899-C-T p.Leu257Leu synonymous ACVR1 2 83092 2.40697E-5 41546 0 1.6475E-5
2-158626923-C-T p.Thr249Thr synonymous ACVR1 3 83086 3.61072E-5 41543 0 9.55475E-5
2-158626952-G-A p.Arg240Cys missense ACVR1 1 83028 1.20441E-5 41514 0 8.23778E-6
2-158626964-T-G p.Ile236Leu missense ACVR1 1 82968 1.20528E-5 41484 0 8.23805E-6
2-158626968-C-T p.Val234Val synonymous ACVR1 3 82960 3.6162E-5 41480 0 NA
2-158626971-G-A p.Ala233Ala synonymous ACVR1 3 82916 3.61812E-5 41458 0 6.25E-4
2-158626980-C-T p.Glu230Glu synonymous ACVR1 78146 81690 0.956616 40845 37577 0.968928
2-158626983-C-T p.Gly229Gly synonymous ACVR1 14 82840 1.69E-4 41420 0 7.96489E-6
2-158627007-C-T p.Glu221Glu synonymous ACVR1 1 82644 1.21001E-5 41322 0 3.29979E-5
2-158627011-C-T p.Gly220Asp missense ACVR1 1 82608 1.21054E-5 41304 0 NA
2-158627012-C-T p.Gly220Ser missense ACVR1 1 82598 1.21068E-5 41299 0 NA
2-158627013-A-AATTG p.Gly220fs frameshift ACVR1 1 82584 1.21089E-5 41292 0 NA
2-158627016-C-T p.Arg218Arg synonymous ACVR1 1 82554 1.21133E-5 41277 0 NA
2-158627029-A-G c.644-3T>C splice_region ACVR1 1 82298 1.2151E-5 41149 0 4.38789E-5
2-158630593-G-A c.643+7C>T splice_region ACVR1 508 82906 0.00612742 41453 12 0.0135868
2-158630601-G-A p.Val214Val splice_region+synonymous ACVR1 1 82928 1.20587E-5 41464 0 6.61081E-5
2-158630607-C-G p.Glu212Asp missense ACVR1 2 82952 2.41103E-5 41476 0 4.78202E-5
2-158630612-A-G p.Leu211Leu synonymous ACVR1 1 82962 1.20537E-5 41481 0 NA
2-158630616-T-C p.Thr209Thr synonymous ACVR1 1 82974 1.2052E-5 41487 0 NA
2-158630631-C-T p.Val204Val synonymous ACVR1 2 83034 2.40865E-5 41517 0 3.98206E-6
2-158630640-T-C p.Gln201Gln synonymous ACVR1 1 83076 1.20372E-5 41538 0 1.19439E-5
2-158630652-A-G p.Pro197Pro synonymous ACVR1 1 83084 1.2036E-5 41542 0 NA
2-158630664-G-C p.Gly193Gly synonymous ACVR1 1 83066 1.20386E-5 41533 0 NA
2-158630682-C-T p.Ser187Ser synonymous ACVR1 6 83002 7.22874E-5 41501 0 3.98267E-5
2-158630683-G-A p.Ser187Leu missense ACVR1 1 82988 1.20499E-5 41494 0 3.18492E-5
2-158630688-ATC-A p.Asp185fs frameshift ACVR1 1 82968 1.20528E-5 41484 0 NA
2-158630691-C-G p.Leu184Phe missense ACVR1 1 82954 1.20549E-5 41477 0 NA
2-158630692-AATAAATCC-A p.Asp182fs frameshift ACVR1 1 82946 1.2056E-5 41473 0 NA
2-158630693-A-G p.Leu184Leu synonymous ACVR1 1 82940 1.20569E-5 41470 0 3.98352E-6
2-158630699-C-CTGCTAAAGTGCTGTCTCCAACATTGGTGGTGATGAGCCCTTCGATAGTG c.544-1_544insCACTATCGAAGGGCTCATCACCACCAATGTTGGAGACAGCACTTTAGCA splice_acceptor ACVR1 2 82852 2.41394E-5 41426 1 NA
2-158630706-T-A c.544-7A>T splice_region ACVR1 2 82690 2.41867E-5 41345 0 2.49012E-5
2-158634654-T-G p.Ser178Arg missense ACVR1 2 82838 2.41435E-5 41419 0 2.47521E-5
2-158634659-C-G p.Gly176Ala missense ACVR1 1 82880 1.20656E-5 41440 0 NA
2-158634661-A-T p.Val175Val synonymous ACVR1 3 82894 3.61908E-5 41447 0 3.2993E-5
2-158634665-T-C p.Asn174Ser missense ACVR1 1 82934 1.20578E-5 41467 0 4.94821E-5
2-158634685-G-A p.Ile167Ile synonymous ACVR1 10 83012 1.20465E-4 41506 0 7.56394E-5
2-158634700-C-T p.Val162Val synonymous ACVR1 2 83034 2.40865E-5 41517 0 NA
2-158634702-C-T p.Val162Met missense ACVR1 6 83032 7.22613E-5 41516 0 9.89527E-5
2-158634703-G-A p.Asp161Asp synonymous ACVR1 2 83040 2.40848E-5 41520 0 5.57289E-5
2-158634707-C-T p.Arg160Gln missense ACVR1 1 83056 1.20401E-5 41528 0 2.47386E-5
2-158634708-G-C p.Arg160Gly missense ACVR1 2 83066 2.40772E-5 41533 0 3.29853E-5
2-158634708-G-A p.Arg160* stop_gained ACVR1 1 83066 1.20386E-5 41533 0 NA
2-158634715-G-A p.Leu157Leu synonymous ACVR1 1 83052 1.20406E-5 41526 0 8.24593E-6
2-158634717-G-A p.Leu157Phe missense ACVR1 7 83062 8.42744E-5 41531 0 NA
2-158634719-C-T p.Arg156His missense ACVR1 1 83046 1.20415E-5 41523 0 8.24729E-6
2-158634719-C-A p.Arg156Leu missense ACVR1 1 83046 1.20415E-5 41523 0 3.98099E-6
2-158634720-G-A p.Arg156Cys missense ACVR1 1 83052 1.20406E-5 41526 0 8.24756E-6
2-158634731-C-T p.Arg152His missense ACVR1 2 83026 2.40888E-5 41513 0 2.38873E-5
2-158634732-G-A p.Arg152Cys missense ACVR1 2 83028 2.40883E-5 41514 0 8.24783E-6
2-158634736-T-C p.Lys150Lys synonymous ACVR1 1 83034 1.20433E-5 41517 0 4.95009E-5
2-158634746-C-T p.Arg147Gln missense ACVR1 3 82992 3.61481E-5 41496 0 8.25123E-6
2-158634751-A-G p.Ala145Ala synonymous ACVR1 1 83002 1.20479E-5 41501 0 NA
2-158634769-G-A p.Ala139Ala synonymous ACVR1 1 82978 1.20514E-5 41489 0 1.19467E-5
2-158634774-A-G p.Leu138Leu synonymous ACVR1 5 82982 6.0254E-5 41491 0 1.40582E-4
2-158634798-A-G p.Ser130Pro missense ACVR1 1 82956 1.20546E-5 41478 0 NA
2-158634801-G-T p.Leu129Ile missense ACVR1 2 82978 2.41028E-5 41489 0 NA
2-158634822-A-G p.Leu122Leu synonymous ACVR1 1 82940 1.20569E-5 41470 0 NA
2-158634825-G-A p.His121Tyr missense ACVR1 5 82924 6.02962E-5 41462 0 5.03525E-4
2-158634829-A-G p.Asn119Asn synonymous ACVR1 12 82932 1.44697E-4 41466 0 9.55779E-5
2-158634834-G-C p.Gln118Glu missense ACVR1 2 82890 2.41284E-5 41445 0 NA
2-158634846-AG-A p.Phe114fs frameshift ACVR1 1 82804 1.20767E-5 41402 0 NA
2-158634855-C-CTTTAG c.332-2_332-1insCTAAA splice_acceptor ACVR1 6 82718 7.25356E-5 41359 3 NA
2-158636855-T-A p.Thr109Ser missense ACVR1 2 82898 2.4126E-5 41449 0 NA
2-158636859-C-A p.Leu107Leu synonymous ACVR1 1 82908 1.20616E-5 41454 0 6.37105E-5
2-158636864-G-C p.Gln106Glu missense ACVR1 1 82974 1.2052E-5 41487 0 NA
2-158636868-C-T p.Thr104Thr synonymous ACVR1 4 82972 4.8209E-5 41486 0 0.00100806
2-158636869-G-A p.Thr104Met missense ACVR1 3 82974 3.61559E-5 41487 0 3.3095E-5
2-158636873-T-C p.Ile103Val missense ACVR1 1 83014 1.20462E-5 41507 0 NA
2-158636879-T-C p.Arg101Gly missense ACVR1 2 83024 2.40894E-5 41512 0 8.2605E-6
2-158636886-C-T p.Trp98* stop_gained ACVR1 1 83030 1.20438E-5 41515 0 8.25573E-6
2-158636892-C-T p.Gly96Gly synonymous ACVR1 1 83038 1.20427E-5 41519 0 1.073E-4
2-158636893-C-T p.Gly96Glu missense ACVR1 1 83044 1.20418E-5 41522 0 NA
2-158636910-G-A p.Ala90Ala synonymous ACVR1 57397 81618 0.70324 40809 21144 0.78625
2-158636925-C-T p.Pro85Pro synonymous ACVR1 6 83014 7.2277E-5 41507 0 6.25E-4
2-158636928-C-T p.Pro84Pro synonymous ACVR1 1 83016 1.20459E-5 41508 0 4.12011E-5
2-158636929-G-T p.Pro84Gln missense ACVR1 1 83032 1.20435E-5 41516 0 8.23954E-6
2-158636964-C-T p.Gln72Gln splice_region+synonymous ACVR1 2 83154 2.40518E-5 41577 0 NA
2-158636982-G-A p.Tyr66Tyr synonymous ACVR1 19 83164 2.28464E-4 41582 0 1.59177E-5
2-158636987-C-T p.Val65Ile missense ACVR1 1 83154 1.20259E-5 41577 0 6.37389E-5
2-158636988-G-A p.His64His synonymous ACVR1 10 83154 1.20259E-4 41577 0 1.27494E-4
2-158636992-A-G p.Phe63Ser missense ACVR1 1 83168 1.20239E-5 41584 0 8.23737E-6
2-158637000-G-A p.Asn60Asn synonymous ACVR1 5 83188 6.01048E-5 41594 0 6.37674E-5
2-158637013-G-A p.Ser56Leu missense ACVR1 1 83176 1.20227E-5 41588 0 NA
2-158637039-G-C p.His47Gln missense ACVR1 24 83172 2.88559E-4 41586 0 4.77854E-4
2-158637041-G-A p.His47Tyr missense ACVR1 1 83176 1.20227E-5 41588 0 NA
2-158637050-T-G p.Asn44His missense ACVR1 2 83150 2.40529E-5 41575 0 3.98004E-6
2-158637053-C-T p.Gly43Ser missense ACVR1 19 83146 2.28514E-4 41573 0 6.25E-4
2-158637054-G-A p.Cys42Cys synonymous ACVR1 8 83140 9.62232E-5 41570 0 6.25E-4
2-158637058-G-A p.Ser41Phe missense ACVR1 4 83144 4.81093E-5 41572 0 1.19414E-5
2-158637065-C-T p.Gly39Ser missense ACVR1 1 83130 1.20294E-5 41565 0 NA
2-158637081-G-A p.Tyr33Tyr synonymous ACVR1 4 83072 4.8151E-5 41536 0 2.72169E-4
2-158637081-G-T p.Tyr33* stop_gained ACVR1 2 83072 2.40755E-5 41536 0 3.19489E-5
2-158637104-G-A p.Pro26Ser missense ACVR1 2 82968 2.41057E-5 41484 0 3.19857E-5
2-158655942-C-T p.Glu22Lys missense ACVR1 2 83062 2.40784E-5 41531 0 NA
2-158655942-C-G p.Glu22Gln missense ACVR1 3 83062 3.61176E-5 41531 0 3.98048E-6
2-158655944-A-C p.Met21Arg missense ACVR1 3 83070 3.61141E-5 41535 0 NA
2-158655948-T-C p.Ser20Gly missense ACVR1 1 83078 1.20369E-5 41539 0 NA
2-158655950-G-A p.Pro19Leu missense ACVR1 1 83094 1.20346E-5 41547 0 NA
2-158655954-A-C p.Ser18Ala missense ACVR1 1 83056 1.20401E-5 41528 0 8.24974E-6
2-158655962-G-C p.Ala15Gly missense ACVR1 807 83050 0.00971704 41525 6 0.0525
2-158655972-T-C p.Ile12Val missense ACVR1 2 83062 2.40784E-5 41531 0 5.03525E-4
2-158655979-A-G p.Pro9Pro synonymous ACVR1 9 83052 1.08366E-4 41526 0 4.94886E-5
2-158655984-G-C p.Leu8Val missense ACVR1 1 83058 1.20398E-5 41529 0 NA
2-158655995-C-G p.Gly4Ala missense ACVR1 1 82990 1.20496E-5 41495 0 NA
2-158656005-T-C p.Met1? start_lost ACVR1 4 82962 4.82148E-5 41481 0 5.77596E-5
2-158674944-G-A c.-55C>T 5_prime_UTR_premature_start_codon_gain ACVR1 1 2914 3.43171E-4 1457 0 2.23129E-4
2-158675073-T-TCGGGTCCCGCCGCGGCCGGGG c.-182-3_-182-2insCCCCGGCCGCGGCGGGACCCG splice_region ACVR1 1 2940 3.40136E-4 1470 0 NA
2-158732039-A-G c.-183+8T>C splice_region ACVR1 1 824 0.00121359 412 0 3.84763E-4